Canonical Allele Identifier: CA143818

Gene: MACROD2 FLRT3

Linked Data

• ClinVar Variation Id: 50864
• ClinVar RCV Id: RCV000043604
• dbSNP Id: rs398124653
• ExAC: 20:14307948 G / T
• gnomAD v2: 20-14307948-G-T
• gnomAD v3: 20-14327302-G-T
• gnomAD v4: 20-14327302-G-T
• MyVariant Identifiers: chr20:g.14307948G>T (hg19) ; chr20:g.14327302G>T (hg38)
• PubMed: PMID:23643382

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.14327302G>T , CM000682.2:g.14327302G>T	GRCh38
NC_000020.10:g.14307948G>T , CM000682.1:g.14307948G>T	GRCh37
NC_000020.9:g.14255948G>T	NCBI36
NG_033913.1:g.15366C>A
NG_054905.1:g.336803G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684519.1:c.272-166177G>T (MACROD2) MANE Select	ENSP00000507484.1:n.272-166177G>T
ENST00000341420.5:c.205C>A (FLRT3) MANE Select	ENSP00000339912.4:p.Gln69Lys
ENST00000642719.1:c.272-166177G>T (MACROD2)	ENSP00000496601.1:n.272-166177G>T
ENST00000217246.8:c.272-166177G>T (MACROD2)	ENSP00000217246.4:n.272-166177G>T
ENST00000341420.4:c.205C>A (FLRT3)	ENSP00000339912.4:p.Gln69Lys
ENST00000378053.3:c.205C>A (FLRT3)	ENSP00000367292.3:p.Gln69Lys
ENST00000477147.5:n.541-166177G>T (MACROD2)
ENST00000490428.5:n.263-166177G>T (MACROD2)
ENST00000494602.5:n.299-166177G>T (MACROD2)
NM_013281.3:c.205C>A (FLRT3)	NP_037413.1:p.Gln69Lys
NM_080676.5:c.272-166177G>T (MACROD2)	NP_542407.2:n.272-166177G>T
NM_198391.2:c.205C>A (FLRT3)	NP_938205.1:p.Gln69Lys
XM_005260682.3:c.205C>A (FLRT3)	XP_005260739.1:p.Gln69Lys
XM_011529204.1:c.205C>A (FLRT3)	XP_011527506.1:p.Gln69Lys
XM_011529205.1:c.205C>A (FLRT3)	XP_011527507.1:p.Gln69Lys
NM_001351661.1:c.272-166177G>T (MACROD2)	NP_001338590.1:n.272-166177G>T
NM_001351663.1:c.272-166177G>T (MACROD2)	NP_001338592.1:n.272-166177G>T
XM_005260682.4:c.205C>A (FLRT3)	XP_005260739.1:p.Gln69Lys
XM_011529204.2:c.205C>A (FLRT3)	XP_011527506.1:p.Gln69Lys
XM_011529205.2:c.205C>A (FLRT3)	XP_011527507.1:p.Gln69Lys
NM_198391.3:c.205C>A (FLRT3) MANE Select	NP_938205.1:p.Gln69Lys
NM_001351661.2:c.272-166177G>T (MACROD2) MANE Select	NP_001338590.1:n.272-166177G>T
NM_001351663.2:c.272-166177G>T (MACROD2)	NP_001338592.1:n.272-166177G>T
NM_080676.6:c.272-166177G>T (MACROD2)	NP_542407.2:n.272-166177G>T
NM_013281.4:c.205C>A (FLRT3)	NP_037413.1:p.Gln69Lys